rs1800054
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common on affy axiom data |
| (C;G) | 1.05 | very slightly increased risk (1.05) for breast cancer |
| (G;G) | 1.5 | 1.5x increased risk for breast cancer |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 108227849 |
| Gene | ATM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800054 |
| dbSNP (classic) | rs1800054 |
| ClinGen | rs1800054 |
| ebi | rs1800054 |
| HLI | rs1800054 |
| Exac | rs1800054 |
| Gnomad | rs1800054 |
| Varsome | rs1800054 |
| LitVar | rs1800054 |
| Map | rs1800054 |
| PheGenI | rs1800054 |
| Biobank | rs1800054 |
| 1000 genomes | rs1800054 |
| hgdp | rs1800054 |
| ensembl | rs1800054 |
| geneview | rs1800054 |
| scholar | rs1800054 |
| rs1800054 | |
| pharmgkb | rs1800054 |
| gwascentral | rs1800054 |
| openSNP | rs1800054 |
| 23andMe | rs1800054 |
| SNPshot | rs1800054 |
| SNPdbe | rs1800054 |
| MSV3d | rs1800054 |
| GWAS Ctlg | rs1800054 |
| GMAF | 0.00551 |
| Max Magnitude | 1.5 |
rs1800054, also known as S49C, is a SNP in the ATM gene.
A large meta-analysis published in 2011, comprising 26,000+ breast cancer cases and almost 30,000 controls from 23 studies in the Breast Cancer Association Consortium, found average odds ratios of 1.05 for heterozygotes and 1.51 for homozygotes of each of 5 ATM gene SNPs, of which this is one.[PMID 20826828
]
| ClinVar | |
|---|---|
| Risk | Rs1800054(G;G) rs1800054(T;T) |
| Alt | Rs1800054(G;G) rs1800054(T;T) |
| Reference | Rs1800054(C;C) |
| Significance | Other |
| Disease | Breast cancer Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified not provided |
| Variation | info |
| Gene | ATM |
| CLNDBN | Breast cancer, susceptibility to Ataxia-telangiectasia syndrome Hereditary cancer-predisposing syndrome not specified not provided |
| Reversed | 0 |
| HGVS | NC_000011.9:g.108098576C>G; NC_000011.9:g.108098576C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003189.3, RCV000122818.5, RCV000128940.4, RCV000176968.2, RCV000224620.1, RCV000122819.1, RCV000485863.1, |
[PMID 17293864] A common coding variant in CASP8 is associated with breast cancer risk.
[PMID 17431766] Two-stage case-control study of common ATM gene variants in relation to breast cancer risk.
[PMID 20452958] Single-nucleotide polymorphisms in the p53 signaling pathway.
[PMID 20605201] Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.
